Incidental Mutation 'R1104:Vmn2r6'
| ID |
98335 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r6
|
| Ensembl Gene |
ENSMUSG00000090581 |
| Gene Name |
vomeronasal 2, receptor 6 |
| Synonyms |
EG667069, EG620718 |
| MMRRC Submission |
039177-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.241)
|
| Stock # |
R1104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64444916-64472855 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 64445487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 657
(V657E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165012]
[ENSMUST00000176481]
|
| AlphaFold |
H3BK29 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165012
AA Change: V657E
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131831
Gene: ENSMUSG00000090581
AA Change: V657E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
416 |
1.4e-72 |
PFAM |
|
Pfam:Peripla_BP_6
|
58 |
244 |
1.2e-10 |
PFAM |
|
Pfam:NCD3G
|
458 |
511 |
1.8e-17 |
PFAM |
|
Pfam:7tm_3
|
542 |
779 |
3.9e-76 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176481
AA Change: V746E
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135148
Gene: ENSMUSG00000090581
AA Change: V746E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
88 |
505 |
9.8e-77 |
PFAM |
|
Pfam:Peripla_BP_6
|
142 |
331 |
3.4e-10 |
PFAM |
|
Pfam:NCD3G
|
547 |
600 |
5.4e-17 |
PFAM |
|
Pfam:7tm_3
|
633 |
867 |
3.9e-47 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930550C14Rik |
A |
G |
9: 53,332,917 (GRCm39) |
I93V |
probably benign |
Het |
| Abcg5 |
A |
C |
17: 84,989,477 (GRCm39) |
I77S |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,171,545 (GRCm39) |
Y762C |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,716,962 (GRCm39) |
S26P |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,426 (GRCm39) |
Y441C |
probably damaging |
Het |
| B3gnt3 |
A |
G |
8: 72,146,481 (GRCm39) |
L16S |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,002 (GRCm39) |
D1677E |
probably damaging |
Het |
| Cd5l |
T |
A |
3: 87,268,206 (GRCm39) |
S18T |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,792,981 (GRCm39) |
S64* |
probably null |
Het |
| Cryzl2 |
T |
A |
1: 157,298,174 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dhrs1 |
T |
C |
14: 55,981,162 (GRCm39) |
K83E |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,980 (GRCm39) |
F526L |
probably benign |
Het |
| Dnajb14 |
T |
A |
3: 137,614,115 (GRCm39) |
M342K |
possibly damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,761 (GRCm39) |
V101A |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,979,302 (GRCm39) |
T321P |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,856,530 (GRCm39) |
R1971Q |
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,754 (GRCm39) |
N608S |
probably damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,281,998 (GRCm39) |
V451D |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,924,235 (GRCm39) |
L251P |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,781,080 (GRCm39) |
S222C |
probably damaging |
Het |
| Gsr |
A |
G |
8: 34,159,949 (GRCm39) |
E99G |
probably damaging |
Het |
| H1f5 |
T |
C |
13: 21,964,451 (GRCm39) |
T92A |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,131,679 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,844,774 (GRCm39) |
I849N |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,323 (GRCm39) |
T930A |
probably benign |
Het |
| Ivns1abp |
T |
A |
1: 151,235,860 (GRCm39) |
M309K |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,952,864 (GRCm39) |
F1078Y |
probably damaging |
Het |
| Krt12 |
C |
A |
11: 99,312,792 (GRCm39) |
G84V |
unknown |
Het |
| Krt40 |
T |
G |
11: 99,431,059 (GRCm39) |
E150A |
probably damaging |
Het |
| Lcn11 |
G |
T |
2: 25,669,115 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
T |
19: 41,574,502 (GRCm39) |
G1086C |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,898 (GRCm39) |
I57T |
possibly damaging |
Het |
| Lrrc46 |
C |
T |
11: 96,926,997 (GRCm39) |
V107M |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,832 (GRCm39) |
I45T |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,841,554 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
C |
T |
12: 111,584,831 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,014 (GRCm39) |
A642V |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,019,991 (GRCm39) |
S1814P |
possibly damaging |
Het |
| Ndst1 |
T |
A |
18: 60,830,218 (GRCm39) |
S631C |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,103,691 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,351,989 (GRCm39) |
M202K |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,090 (GRCm39) |
M196K |
probably benign |
Het |
| Parn |
A |
G |
16: 13,485,449 (GRCm39) |
Y16H |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,664,785 (GRCm39) |
|
probably benign |
Het |
| Prl3d1 |
C |
T |
13: 27,283,992 (GRCm39) |
T187I |
probably benign |
Het |
| Ptgir |
G |
A |
7: 16,641,055 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
C |
T |
1: 160,059,445 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,368,055 (GRCm39) |
Y4697H |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,808,364 (GRCm39) |
I598F |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,684,855 (GRCm39) |
V3029M |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,920 (GRCm39) |
F335S |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,945,032 (GRCm39) |
M1V |
probably null |
Het |
| Stau2 |
A |
T |
1: 16,510,585 (GRCm39) |
Y124* |
probably null |
Het |
| Tbl3 |
A |
G |
17: 24,920,580 (GRCm39) |
I652T |
probably benign |
Het |
| Trappc3 |
C |
T |
4: 126,166,759 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
A |
T |
8: 65,454,071 (GRCm39) |
F59L |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,453 (GRCm39) |
F4686S |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,840,529 (GRCm39) |
T1672A |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,758 (GRCm39) |
I266N |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,529,802 (GRCm39) |
A548S |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,500 (GRCm39) |
Y609C |
probably damaging |
Het |
| Znfx1 |
C |
A |
2: 166,897,560 (GRCm39) |
E455* |
probably null |
Het |
|
| Other mutations in Vmn2r6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01547:Vmn2r6
|
APN |
3 |
64,445,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01968:Vmn2r6
|
APN |
3 |
64,463,766 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02009:Vmn2r6
|
APN |
3 |
64,445,323 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL02039:Vmn2r6
|
APN |
3 |
64,463,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02652:Vmn2r6
|
APN |
3 |
64,463,749 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02737:Vmn2r6
|
APN |
3 |
64,463,911 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02808:Vmn2r6
|
APN |
3 |
64,463,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03066:Vmn2r6
|
APN |
3 |
64,472,574 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03331:Vmn2r6
|
APN |
3 |
64,445,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
BB020:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0010:Vmn2r6
|
UTSW |
3 |
64,466,966 (GRCm39) |
nonsense |
probably null |
|
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0206:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0208:Vmn2r6
|
UTSW |
3 |
64,447,333 (GRCm39) |
missense |
probably benign |
|
|
R0427:Vmn2r6
|
UTSW |
3 |
64,467,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Vmn2r6
|
UTSW |
3 |
64,463,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1018:Vmn2r6
|
UTSW |
3 |
64,464,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1186:Vmn2r6
|
UTSW |
3 |
64,472,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1245:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R1295:Vmn2r6
|
UTSW |
3 |
64,445,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1473:Vmn2r6
|
UTSW |
3 |
64,445,579 (GRCm39) |
nonsense |
probably null |
|
|
R1498:Vmn2r6
|
UTSW |
3 |
64,463,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1925:Vmn2r6
|
UTSW |
3 |
64,463,698 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2044:Vmn2r6
|
UTSW |
3 |
64,445,262 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2069:Vmn2r6
|
UTSW |
3 |
64,463,519 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2253:Vmn2r6
|
UTSW |
3 |
64,467,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2261:Vmn2r6
|
UTSW |
3 |
64,464,090 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2262:Vmn2r6
|
UTSW |
3 |
64,464,090 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2350:Vmn2r6
|
UTSW |
3 |
64,463,773 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2680:Vmn2r6
|
UTSW |
3 |
64,445,707 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2846:Vmn2r6
|
UTSW |
3 |
64,464,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2860:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2861:Vmn2r6
|
UTSW |
3 |
64,454,760 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3766:Vmn2r6
|
UTSW |
3 |
64,463,929 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3870:Vmn2r6
|
UTSW |
3 |
64,464,042 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4018:Vmn2r6
|
UTSW |
3 |
64,463,893 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4024:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4026:Vmn2r6
|
UTSW |
3 |
64,445,671 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4227:Vmn2r6
|
UTSW |
3 |
64,445,369 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4526:Vmn2r6
|
UTSW |
3 |
64,445,145 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4570:Vmn2r6
|
UTSW |
3 |
64,467,068 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4894:Vmn2r6
|
UTSW |
3 |
64,454,829 (GRCm39) |
missense |
probably benign |
|
|
R4934:Vmn2r6
|
UTSW |
3 |
64,463,766 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5057:Vmn2r6
|
UTSW |
3 |
64,445,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5059:Vmn2r6
|
UTSW |
3 |
64,445,044 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5148:Vmn2r6
|
UTSW |
3 |
64,464,015 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5155:Vmn2r6
|
UTSW |
3 |
64,445,935 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5179:Vmn2r6
|
UTSW |
3 |
64,445,411 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5256:Vmn2r6
|
UTSW |
3 |
64,464,263 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5861:Vmn2r6
|
UTSW |
3 |
64,463,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5950:Vmn2r6
|
UTSW |
3 |
64,472,652 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6081:Vmn2r6
|
UTSW |
3 |
64,463,953 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6173:Vmn2r6
|
UTSW |
3 |
64,467,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Vmn2r6
|
UTSW |
3 |
64,445,424 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6240:Vmn2r6
|
UTSW |
3 |
64,464,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6433:Vmn2r6
|
UTSW |
3 |
64,454,801 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Vmn2r6
|
UTSW |
3 |
64,464,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Vmn2r6
|
UTSW |
3 |
64,445,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7265:Vmn2r6
|
UTSW |
3 |
64,464,195 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7503:Vmn2r6
|
UTSW |
3 |
64,447,372 (GRCm39) |
nonsense |
probably null |
|
|
R7562:Vmn2r6
|
UTSW |
3 |
64,463,941 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7584:Vmn2r6
|
UTSW |
3 |
64,472,683 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7611:Vmn2r6
|
UTSW |
3 |
64,472,563 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7759:Vmn2r6
|
UTSW |
3 |
64,463,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7834:Vmn2r6
|
UTSW |
3 |
64,445,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Vmn2r6
|
UTSW |
3 |
64,467,224 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7982:Vmn2r6
|
UTSW |
3 |
64,467,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8024:Vmn2r6
|
UTSW |
3 |
64,467,245 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8074:Vmn2r6
|
UTSW |
3 |
64,455,064 (GRCm39) |
intron |
probably benign |
|
|
R8169:Vmn2r6
|
UTSW |
3 |
64,447,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8337:Vmn2r6
|
UTSW |
3 |
64,463,526 (GRCm39) |
nonsense |
probably null |
|
|
R8736:Vmn2r6
|
UTSW |
3 |
64,467,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8962:Vmn2r6
|
UTSW |
3 |
64,463,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Vmn2r6
|
UTSW |
3 |
64,464,277 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9206:Vmn2r6
|
UTSW |
3 |
64,467,032 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9295:Vmn2r6
|
UTSW |
3 |
64,463,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9332:Vmn2r6
|
UTSW |
3 |
64,454,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9616:Vmn2r6
|
UTSW |
3 |
64,445,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9663:Vmn2r6
|
UTSW |
3 |
64,463,549 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9685:Vmn2r6
|
UTSW |
3 |
64,464,081 (GRCm39) |
missense |
probably benign |
0.19 |
|
X0020:Vmn2r6
|
UTSW |
3 |
64,445,871 (GRCm39) |
missense |
probably benign |
|
|
X0066:Vmn2r6
|
UTSW |
3 |
64,454,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Vmn2r6
|
UTSW |
3 |
64,463,746 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTAACAAGCCATAGCTGGATGC -3'
(R):5'- AAGCCATGCAACTGGTCCTGCAAG -3'
Sequencing Primer
(F):5'- CTTTGGTGCCCAAGTAAGCAG -3'
(R):5'- AGACCCGTCAGGTCACTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation